Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing

Overview

Journal Appl Clin Genet

Publisher Dove Medical Press

Specialty Genetics

Date 2024 Dec 26

PMID 39722830

Authors

Tadeusz Kaluzewski

Iwona Pinkier

Urszula Wysocka

Jordan Salamunia

Lukasz Kepczynski

Malgorzata Piotrowicz

Bogdan Kaluzewski

Agnieszka Gach

Affiliations

Soon will be listed here.

Abstract

Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals with a 46,XY karyotype. This study aimed to expand the molecular landscape of AIS by identifying and characterizing pathogenic variants in the gene via next-generation sequencing (NGS). Molecular diagnostics revealed eight distinct variants within the gene, two of which had not been previously described. These include the following novel variants: c.3G>A, and c.1344_1345insTA. This study broadens the spectrum of known gene mutations associated with AIS and highlights the critical role of molecular diagnostics in the accurate classification of variants. These findings will aid in enhancing the clinical management and genetic counseling of individuals affected by AIS.

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